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Author: Nicola Whiffin

Rankings

  • All-time downloads: 49,436 (rank: 4,302 )
  • Categories:
    • bioinformatics: 583 (rank: 28,314 (tie) )
    • cardiovascular medicine: 129 (rank: 4,471 (tie) )
    • genetic and genomic medicine: 3,540 (rank: 1,158 )
    • genetics: 1,321 (rank: 14,699 (tie) )
    • genomics: 43,863 (rank: 293 )

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
  • Downloaded 25,376 times
  • Download rankings, all-time:
    • Site-wide: 375
    • In genomics: 11
  • Year to date:
    • Site-wide: 5,393
  • Since beginning of last month:
    • Site-wide: 5,084

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 5,304 times
  • Download rankings, all-time:
    • Site-wide: 2,591
    • In genomics: 223
  • Year to date:
    • Site-wide: 28,821
  • Since beginning of last month:
    • Site-wide: 60,171

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 5,085 times
  • Download rankings, all-time:
    • Site-wide: 2,767
    • In genomics: 247
  • Year to date:
    • Site-wide: 74,075
  • Since beginning of last month:
    • Site-wide: 68,994

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 3,264 times
  • Download rankings, all-time:
    • Site-wide: 5,081
    • In genomics: 488
  • Year to date:
    • Site-wide: 79,999
  • Since beginning of last month:
    • Site-wide: 103,017

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 2,100 times
  • Download rankings, all-time:
    • Site-wide: 9,627
    • In genomics: 942
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 39,972

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

genomics more details view paper
  • Downloaded 1,262 times
  • Download rankings, all-time:
    • Site-wide: 20,790
    • In genomics: 1,914
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 149,605

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 1,094 times
  • Download rankings, all-time:
    • Site-wide: 25,885
    • In genetic and genomic medicine: 129
  • Year to date:
    • Site-wide: 91,572
  • Since beginning of last month:
    • Site-wide: 47,564

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

genetic and genomic medicine more details view paper
  • Downloaded 1,023 times
  • Download rankings, all-time:
    • Site-wide: 28,597
    • In genetic and genomic medicine: 142
  • Year to date:
    • Site-wide: 87
  • Since beginning of last month:
    • Site-wide: 10,552

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy

genetics more details view paper
  • Downloaded 777 times
  • Download rankings, all-time:
    • Site-wide: 42,730
    • In genetics: 1,816
  • Year to date:
    • Site-wide: 28,607
  • Since beginning of last month:
    • Site-wide: 96,663

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
  • Downloaded 765 times
  • Download rankings, all-time:
    • Site-wide: 43,719
    • In genomics: 3,417
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 149,997

Genomics of Egyptian Healthy Volunteers: The EHVol Study

genomics more details view paper
  • Downloaded 707 times
  • Download rankings, all-time:
    • Site-wide: 48,757
    • In genomics: 3,694
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 122,280

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

genetic and genomic medicine more details view paper
  • Downloaded 606 times
  • Download rankings, all-time:
    • Site-wide: 59,970
    • In genetic and genomic medicine: 301
  • Year to date:
    • Site-wide: 18,924
  • Since beginning of last month:
    • Site-wide: 53,617

Annotating high-impact 5'untranslated region variants with the UTRannotator

bioinformatics more details view paper
  • Downloaded 583 times
  • Download rankings, all-time:
    • Site-wide: 62,964
    • In bioinformatics: 6,089
  • Year to date:
    • Site-wide: 42,968
  • Since beginning of last month:
    • Site-wide: 107,815

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

genetics more details view paper
  • Downloaded 544 times
  • Download rankings, all-time:
    • Site-wide: 68,538
    • In genetics: 2,871
  • Year to date:
    • Site-wide: 86,361
  • Since beginning of last month:
    • Site-wide: 136,049

Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity

genetic and genomic medicine more details view paper
  • Downloaded 425 times
  • Download rankings, all-time:
    • Site-wide: 90,034
    • In genetic and genomic medicine: 475
  • Year to date:
    • Site-wide: 95,678
  • Since beginning of last month:
    • Site-wide: 109,936

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

genetic and genomic medicine more details view paper
  • Downloaded 392 times
  • Download rankings, all-time:
    • Site-wide: 97,344
    • In genetic and genomic medicine: 528
  • Year to date:
    • Site-wide: 11,207
  • Since beginning of last month:
    • Site-wide: 26,269

Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant

cardiovascular medicine more details view paper
  • Downloaded 129 times
  • Download rankings, all-time:
    • Site-wide: 161,558
    • In cardiovascular medicine: 550
  • Year to date:
    • Site-wide: 67,969
  • Since beginning of last month:
    • Site-wide: 26,732

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